title: Genomic structure and complete sequence of the human FGFR4 gene.
abstract: We report the genomic structure and entire sequence of the fibroblast growth factor receptor 4 (FGFR4) gene. The gene spans approximately 11.3 kb. It is composed of 18 exons ranging in size from 71 bp to 600 bp. Exon-intron boundaries follow the GT/AG rule. Exon 1 is untranslated and preceded by structural elements characteristic of a TATA-free promoter. Although there are promoter motifs in intron 4 as well, there is currently no evidence of alternative transcription of FGFR4. Comparison of exon-intron boundaries of FGFR4 with those of FGFR1 and 3 reveals a remarkable degree of homology. With the exception of four, exon boundaries are at identical positions in all three receptor genes. Short tandem repeat polymorphisms (STRPs) were identified in introns 2 and 16 of FGFR4. The STRPs together with the sequence information will facilitate the rapid analysis of FGFR4 in those human disorders in which this gene can be considered a candidate.
authors.affiliation: Institut für Humangenetik, Justus-Liebig-Universität Giessen, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Kostrzewa
authors.forename: U
authors.initials: U
authors.lastname: Müller
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D016521:Electrophoresis, Gel, Pulsed-Field; D005091:Exons; D005260:Female; D005346:Fibroblast Growth Factors; D015723:Gene Library; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D051499:Receptor, Fibroblast Growth Factor, Type 4; D017468:Receptors, Fibroblast Growth Factor / Q000737:chemistry / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D005346:Fibroblast Growth Factors; C496371:FGFR4 protein, human; D051499:Receptor, Fibroblast Growth Factor, Type 4